Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0042384 (
vasculitis
)
20,525
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and
vasculitis
has not been reported. We report a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutaneous
vasculitis
,
G20
.210A prothrombin mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination with IgG deficiency might have favored the development of recurrent uro-genital infections. Immunodeficiency might be also involved in the pathogenesis of cutaneous
vasculitis
. Deep venous thrombosis and pulmonary embolism were attributed to the genetically determined prothrombotic state and intake of oral contraceptives.
...
PMID:Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin. 1939 28
